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PIGT (phosphatidylinositol glycan anchor biosynthesis class T)

Gene

51604

Phosphatidylinositol glycan anchor biosynthesis class T

PIGT

CGI-06, MCAHS3, NDAP, PIG-T, PNH2

20q13.12

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of t

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199968454	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201317502	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs527236032	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs571714796	G>A,T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs751861982	->C	Pathogenic, not-provided	Coding sequence variant, non coding transcript variant, frameshift variant
rs1277383877	G>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023683	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050113	hsa-miR-26a-5p	CLASH	23622248
MIRT047380	hsa-miR-34a-5p	CLASH	23622248
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593839	hsa-miR-125a-3p	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2593864	hsa-miR-552	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq

Show/Hide all(9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11483512, 15713669
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016255	Process	Attachment of GPI anchor to protein	IBA	21873635
GO:0016255	Process	Attachment of GPI anchor to protein	TAS	11483512
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	NAS	12052837
GO:0042765	Component	GPI-anchor transamidase complex	IBA	21873635
GO:0042765	Component	GPI-anchor transamidase complex	IDA	11483512
GO:0042765	Component	GPI-anchor transamidase complex	TAS	15713669

MIM	HGNC	e!Ensembl
610272	14938	ENSG00000124155

Protein

UniProt ID

Q969N2

Protein name

GPI-anchor transamidase component PIGT (Phosphatidylinositol-glycan biosynthesis class T protein)

Protein function

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:114835

PDB

7W72 , 7WLD , 8IMX , 8IMY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04113	Gpi16	21 → 572	Gpi16 subunit, GPI transamidase component	Family

Sequence

MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQR
EGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTV
TDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREV
VCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSG
YGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQ
DRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCY
GSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Attachment of GPI anchor to uPAR

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Multiple congenital anomalies-hypotonia-seizures syndrome	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	rs387906726, rs397514475, rs587777027, rs587777186, rs587777187, rs587777396, rs587777397, rs587777398, rs201119959, rs587777399, rs587777400, rs527236031, rs527236032, rs756632799, rs886039216, rs749334082, rs369486176, rs779636222, rs886039217, rs376355678, rs886039218, rs886041514, rs200199765, rs201317502, rs535563062, rs1060499625, rs771691280, rs760977825, rs746882521, rs771157170, rs1555696769, rs1287655964, rs1382897257, rs1277383877, rs1555685797, rs1555683948, rs751861982, rs1555694770, rs1555682938, rs1035743375, rs774753616, rs1568224018, rs376226764, rs763009552, rs200790673, rs1568169374, rs776697598, rs571714796, rs1569180100, rs768557691, rs750418747, rs374704368, rs754517456, rs199968454, rs1602212285, rs759453664, rs1462805697, rs1599520660, rs1599525360, rs1599531710, rs1602206514, rs2033603128, rs867437443, rs2033909461, rs1050258088, rs1921817809, rs1922162801, rs776568529, rs2033087760, rs1458045074, rs1444518753	24906948, 25943031, 23733340, 23636107, 28327575
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2	rs587776723, rs199422232, rs587776724, rs587776725, rs199422233, rs587776726, rs587776727, rs587776728, rs2147483647, rs786200912, rs199422256, rs587777028, rs587777396, rs1555876283, rs776974834, rs1569180100	25417052, 23733340
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
Brachycephaly	Brachycephaly
Cerebellar atrophy	Cerebellar atrophy
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral atrophy	Cerebral atrophy
Congenital pectus excavatum	Congenital pectus excavatum
Dermatographic urticaria	Dermatographic urticaria
Esotropia	Esotropia
High palate	Byzanthine arch palate
Hyperopia	Hyperopia
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Nephrocalcinosis	Nephrocalcinosis
Osteopenia	Osteopenia
Paroxysmal cold hemoglobinuria	Cold paroxysmal hemoglobinuria		25417052
Paroxysmal hemoglobinuria	Hemoglobinuria, Paroxysmal		25417052
Strabismus	Strabismus
Urticaria	Urticaria

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